Aliases for PSPH Gene
External Ids for PSPH Gene
Previous HGNC Symbols for PSPH Gene
Previous GeneCards Identifiers for PSPH Gene
The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]
GeneCards Summary for PSPH Gene
PSPH (Phosphoserine Phosphatase) is a Protein Coding gene. Diseases associated with PSPH include phosphoserine phosphatase deficiency and 3-phosphoserine phosphatase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include calcium ion binding and magnesium ion binding.
UniProtKB/Swiss-Prot for PSPH Gene
Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates.